Preponderance of CTLA4 Variation Associated With Autosomal Dominant Immune Dysregulation in the MYPPPY Motif by Owen M. Siggs, Owen M. Siggs, Amanda Russell, Davinder Singh-Grewal, Melanie Wong, Pearl Chan, Maria E. Craig, Ted O'Loughlin, Michael Stormon, Christopher C. Goodnow, Christopher C. Goodnow

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Genetic interaction implicates iRhom2 in the regulation of EGF receptor signalling in mice by Owen M. Siggs, Adam Grieve, Hongmei Xu, Paul Bambrough, Yonka Christova, Matthew Freeman

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Development and evaluation of patient-centred polygenic risk score reports for glaucoma screening by Georgina L Hollitt, Mark M Hassall, Owen M Siggs, Jamie E Craig, Emmanuelle Souzeau

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Phenotypic consequences of a nanophthalmos-associated TMEM98 variant in human and mouse by Mark M. Hassall, Shari Javadiyan, Sonja Klebe, Mona S. Awadalla, Shiwani Sharma, Ayub Qassim, Melissa White, Paul Q. Thomas, Jamie E. Craig, Owen M. Siggs

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Genetic Risk Assessment of Degenerative Eye Disease (GRADE): study protocol of a prospective assessment of polygenic risk scores to predict diagnosis of glaucoma and age-related ma... by Georgina L Hollitt, Ayub Qassim, Daniel Thomson, Joshua M Schmidt, Thi Thi Nguyen, John Landers, Stuart MacGregor, Owen M Siggs, Emmanuelle Souzeau, Jamie E Craig

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Probability of phenotypically detectable protein damage by ENU-induced mutations in the Mutagenetix database by Tao Wang, Chun Hui Bu, Sara Hildebrand, Gaoxiang Jia, Owen M. Siggs, Stephen Lyon, David Pratt, Lindsay Scott, Jamie Russell, Sara Ludwig, Anne R. Murray, Eva Marie Y. Moresco, Bruce Beutler

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Thrombospondin 1 missense alleles induce extracellular matrix protein aggregation and TM dysfunction in congenital glaucoma by Haojie Fu, Owen M. Siggs, Lachlan S.W. Knight, Sandra E. Staffieri, Jonathan B. Ruddle, Amy E. Birsner, Edward Ryan Collantes, Jamie E. Craig, Janey L. Wiggs, Robert J. D’Amato

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Diagnostic yield of candidate genes in an Australian corneal dystrophy cohort by Emmanuelle Souzeau, Owen M. Siggs, Sean Mullany, Joshua M. Schmidt, Mark M. Hassall, Andrew Dubowsky, Angela Chappell, James Breen, Haae Bae, Jillian Nicholl, Johanna Hadler, Lisa S. Kearns, Sandra E. Staffieri, Alex W. Hewitt, David A. Mackey, Aanchal Gupta, Kathryn P. Burdon, Sonja Klebe, Jamie E. Craig, Richard A. Mills

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Unlocking the bottleneck in forward genetics using whole-genome sequencing and identity by descent to isolate causative mutations. by Katherine R Bull, Andrew J Rimmer, Owen M Siggs, Lisa A Miosge, Carla M Roots, Anselm Enders, Edward M Bertram, Tanya L Crockford, Belinda Whittle, Paul K Potter, Michelle M Simon, Ann-Marie Mallon, Steve D M Brown, Bruce Beutler, Christopher C Goodnow, Gerton Lunter, Richard J Cornall

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Exome-based investigation of the genetic basis of human pigmentary glaucoma by Carly van der Heide, Wes Goar, Kacie J. Meyer, Wallace L. M. Alward, Erin A. Boese, Nathan C. Sears, Ben R. Roos, Young H. Kwon, Adam P. DeLuca, Owen M. Siggs, Claudia Gonzaga-Jauregui, Val C. Sheffield, Kai Wang, Edwin M. Stone, Robert F. Mullins, Michael G. Anderson, Bao Jian Fan, Robert Ritch, Jamie E. Craig, Janey L. Wiggs, Todd E. Scheetz, John H. Fingert

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Deep Learning-Based Identification of Intraocular Pressure-Associated Genes Influencing Trabecular Meshwork Cell Morphology by Connor J. Greatbatch, MBBS, Qinyi Lu, MD, PhD, Sandy Hung, PhD, Son N. Tran, PhD, Kristof Wing, MBBS, Helena Liang, MD, PhD, Xikun Han, PhD, Tiger Zhou, FRANZCO, PhD, Owen M. Siggs, MD, PhD, David A. Mackey, FRANZCO, MD, Guei-Sheung Liu, PhD, Anthony L. Cook, PhD, Joseph E. Powell, PhD, Jamie E. Craig, FRANZCO, DPhil, Stuart MacGregor, PhD, Alex W. Hewitt, FRANZCO, PhD

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Genetic Risk of Cardiovascular Disease Is Associated with Macular Ganglion Cell–Inner Plexiform Layer Thinning in an Early Glaucoma Cohort by Henry Marshall, MBBS, Sean Mullany, MD, Xikun Han, PhD, Ella C. Berry, MChD, Mark M. Hassall, DPhil, Ayub Qassim, PhD, Thi Nguyen, BMSc(Optom), Georgina L. Hollitt, MBBS, Lachlan S.W. Knight, MOrth, Bronwyn Ridge, BA, Joshua Schmidt, PhD, Caroline Crowley, BDS, Angela Schulz, PhD, Richard A. Mills, PhD, Ashish Agar, PhD, Anna Galanopoulos, MBBS, John Landers, PhD, Paul R. Healey, PhD, Stuart L. Graham, PhD, Alex W. Hewitt, PhD, Robert J. Casson, DPhil, Stuart MacGregor, PhD, Owen M. Siggs, DPhil, Jamie E. Craig, DPhil

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No Strong Association between the Apolipoprotein E E4 Allele and Glaucoma by Sean Mullany, MD, Santiago Diaz-Torres, MPhil, Joshua M. Schmidt, PhD, Daniel Thomson, PhD, Ayub Qassim, MBBS, PhD, Henry N. Marshall, MD, Lachlan S.W. Knight, MOrth, Ella C. Berry, MChD, Antonia Kolovos, MD, David Dimasi, PhD, Stewart Lake, MBChB, PhD, Richard A. Mills, MBBS, PhD, John Landers, MBBS, PhD, Paul Mitchell, MBBS, PhD, Paul R. Healey, MBBS, PhD, Toby Commerford, MBBS, Sonja Klebe, MD, PhD, Emmanuelle Souzeau, PhD, Mark M. Hassall, MBBS, DPhil, Stuart MacGregor, PhD, Puya Gharahkhani, PhD, Owen M. Siggs, MD, DPhil, Jamie E. Craig, MBBS, DPhil

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The APOE E4 Allele Is Associated with Faster Rates of Neuroretinal Thinning in a Prospective Cohort Study of Suspect and Early Glaucoma by Sean Mullany, MD, Henry Marshall, MD, Santiago Diaz-Torres, Ella C. Berry, MChD, Joshua M. Schmidt, PhD, Daniel Thomson, PhD, Ayub Qassim, MBBS, PhD, Minh-Son To, MD, PhD, David Dimasi, PhD, Abraham Kuot, PhD, Lachlan S.W. Knight, Georgina Hollitt, MBBS, Antonia Kolovos, MD, Angela Schulz, PhD, Stewart Lake, MBChB, Richard A. Mills, MBBS, PhD, Ashish Agar, MBBS, PhD, Anna Galanopoulos, MBBS, John Landers, MBBS, PhD, Paul Mitchell, MBBS, PhD, Paul R. Healey, MBBS, PhD, Stuart L. Graham, MBBS, PhD, Alex W. Hewitt, MBBS, PhD, Emmanuelle Souzeau, PhD, Mark M. Hassall, MBBS, DPhil, Sonja Klebe, MBBS, PhD, Stuart MacGregor, PhD, Puya Gharahkhani, PhD, Robert J. Casson, MBBS, DPhil, Owen M. Siggs, MD, DPhil, Jamie E. Craig, MBBS, DPhil

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Mammalian γ2 AMPK regulates intrinsic heart rate by Arash Yavari, Mohamed Bellahcene, Annalisa Bucchi, Syevda Sirenko, Katalin Pinter, Neil Herring, Julia J. Jung, Kirill V. Tarasov, Emily J. Sharpe, Markus Wolfien, Gabor Czibik, Violetta Steeples, Sahar Ghaffari, Chinh Nguyen, Alexander Stockenhuber, Joshua R. St. Clair, Christian Rimmbach, Yosuke Okamoto, Dongmei Yang, Mingyi Wang, Bruce D. Ziman, Jack M. Moen, Daniel R. Riordon, Christopher Ramirez, Manuel Paina, Joonho Lee, Jing Zhang, Ismayil Ahmet, Michael G. Matt, Yelena S. Tarasova, Dilair Baban, Natasha Sahgal, Helen Lockstone, Rathi Puliyadi, Joseph de Bono, Owen M. Siggs, John Gomes, Hannah Muskett, Mahon L. Maguire, Youlia Beglov, Matthew Kelly, Pedro P. N. dos Santos, Nicola J. Bright, Angela Woods, Katja Gehmlich, Henrik Isackson, Gillian Douglas, David J. P. Ferguson, Jürgen E. Schneider, Andrew Tinker, Olaf Wolkenhauer, Keith M. Channon, Richard J. Cornall, Eduardo B. Sternick, David J. Paterson, Charles S. Redwood, David Carling, Catherine Proenza, Robert David, Mirko Baruscotti, Dario DiFrancesco, Edward G. Lakatta, Hugh Watkins, Houman Ashrafian

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Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries by Puya Gharahkhani, Eric Jorgenson, Pirro Hysi, Anthony P. Khawaja, Sarah Pendergrass, Xikun Han, Jue Sheng Ong, Alex W. Hewitt, Ayellet V. Segrè, John M. Rouhana, Andrew R. Hamel, Robert P. Igo, Helene Choquet, Ayub Qassim, Navya S. Josyula, Jessica N. Cooke Bailey, Pieter W. M. Bonnemaijer, Adriana Iglesias, Owen M. Siggs, Terri L. Young, Veronique Vitart, Alberta A. H. J. Thiadens, Juha Karjalainen, Steffen Uebe, Ronald B. Melles, K. Saidas Nair, Robert Luben, Mark Simcoe, Nishani Amersinghe, Angela J. Cree, Rene Hohn, Alicia Poplawski, Li Jia Chen, Shi-Song Rong, Tin Aung, Eranga Nishanthie Vithana, NEIGHBORHOOD consortium, ANZRAG consortium, Biobank Japan project, FinnGen study, UK Biobank Eye and Vision Consortium, GIGA study group, 23 and Me Research Team, Gen Tamiya, Yukihiro Shiga, Masayuki Yamamoto, Toru Nakazawa, Hannah Currant, Ewan Birney, Xin Wang, Adam Auton, Michelle K. Lupton, Nicholas G. Martin, Adeyinka Ashaye, Olusola Olawoye, Susan E. Williams, Stephen Akafo, Michele Ramsay, Kazuki Hashimoto, Yoichiro Kamatani, Masato Akiyama, Yukihide Momozawa, Paul J. Foster, Peng T. Khaw, James E. Morgan, Nicholas G. Strouthidis, Peter Kraft, Jae H. Kang, Chi Pui Pang, Francesca Pasutto, Paul Mitchell, Andrew J. Lotery, Aarno Palotie, Cornelia van Duijn, Jonathan L. Haines, Chris Hammond, Louis R. Pasquale, Caroline C. W. Klaver, Michael Hauser, Chiea Chuen Khor, David A. Mackey, Michiaki Kubo, Ching-Yu Cheng, Jamie E. Craig, Stuart MacGregor, Janey L. Wiggs

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